Varaico: Literature-Extracted Genetic Variants

CPT1B

109 papers

RefSeq Summary

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria....

Pfam Domains

CPT_Naa 1–47UCSCCarnitine O-palmitoyltransferase N-terminus

Carn_acyltransfaa 176–756UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine palmitoyltransferase 1B

HGNC Alias Symbols

M-CPT1; CPT1-M

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152246.3

p.V178insFs

c.533_534insT

Surrounding Variants

1 paper

NM_152246.3

p.R187L

c.560G>T

1 paper

NM_152246.3

p.H163D

c.487C>G

1 paper

NM_152246.3

p.A153_M154Splc

c.459+76C>G

2 papers

NM_152246.3

p.R187_Y188Splc

c.562-2A>G

1 paper

NM_152246.3

p.D197Y

c.589G>T

1 paper

NM_152246.3

p.D198E

c.594T>A

1 paper

NM_152246.3

p.L207L

c.621G>A

1 paper

NM_152246.3

p.H142Y

c.424C>T

1 paper

NM_152246.3

p.E140delFs

c.419delT

1 paper

NM_152246.3

p.S227L

c.680C>T

2 papers

NM_152246.3

p.S113F

c.338C>T

1 paper

NM_152246.3

p.W238C

c.714G>T